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Canonical Allele Identifier: Get Identifier
Gene: COL18A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000347665.5:p.[Gly1125del;Gly1128Arg;Arg1130_Tyr1132delinsThrTrpLeu;Gly1134_Lys1139delinsTrpAspSerArgSerGln;Glu1141_Arg1144delinsArgGluHisPro;Gln1146_Gly1148delinsProAlaArg;Pro1150_Gln1153delinsThrTrpThrSer;Gly1154_Pro1155insThr]
CA1139771371
ENST00000355480.10:c.3373_3374del